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Material Type: Artigo
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population SettingWright, Caroline F. ; West, Ben ; Tuke, Marcus ; Jones, Samuel E. ; Patel, Kashyap ; Laver, Thomas W. ; Beaumont, Robin N. ; Tyrrell, Jessica ; Wood, Andrew R. ; Frayling, Timothy M. ; Hattersley, Andrew T. ; Weedon, Michael N.American journal of human genetics, 2019-02, Vol.104 (2), p.275-286 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeSleven, Hannah ; Welsh, Seth J. ; Yu, Jing ; Churchill, Mair E.A. ; Wright, Caroline F. ; Henderson, Alex ; Horvath, Rita ; Rankin, Julia ; Vogt, Julie ; Magee, Alex ; McConnell, Vivienne ; Green, Andrew ; King, Mary D. ; Cox, Helen ; Armstrong, Linlea ; Lehman, Anna ; Nelson, Tanya N. ; Williams, Jonathan ; Clouston, Penny ; Hagman, James ; Németh, Andrea H.American journal of human genetics, 2017-01, Vol.100 (1), p.138-150 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Runs of Homozygosity in European PopulationsMcQuillan, Ruth ; Leutenegger, Anne-Louise ; Abdel-Rahman, Rehab ; Franklin, Christopher S. ; Pericic, Marijana ; Barac-Lauc, Lovorka ; Smolej-Narancic, Nina ; Janicijevic, Branka ; Polasek, Ozren ; Tenesa, Albert ; MacLeod, Andrew K. ; Farrington, Susan M. ; Rudan, Pavao ; Hayward, Caroline ; Vitart, Veronique ; Rudan, Igor ; Wild, Sarah H. ; Dunlop, Malcolm G. ; Wright, Alan F. ; Campbell, Harry ; Wilson, James F.American journal of human genetics, 2008-09, Vol.83 (3), p.359-372 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis PigmentosaBreuer, Debra K. ; Yashar, Beverly M. ; Filippova, Elena ; Hiriyanna, Suja ; Lyons, Robert H. ; Mears, Alan J. ; Asaye, Bersabell ; Acar, Ceren ; Vervoort, Raf ; Wright, Alan F. ; Musarella, Maria A. ; Wheeler, Patricia ; MacDonald, Ian ; Iannaccone, Alessandro ; Birch, David ; Hoffman, Dennis R. ; Fishman, Gerald A. ; Heckenlively, John R. ; Jacobson, Samuel G. ; Sieving, Paul A. ; Swaroop, AnandAmerican journal of human genetics, 2002-06, Vol.70 (6), p.1545-1554 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial MetabolismGunning, Adam C. ; Strucinska, Klaudia ; Muñoz Oreja, Mikel ; Parrish, Andrew ; Caswell, Richard ; Stals, Karen L. ; Durigon, Romina ; Durlacher-Betzer, Karina ; Cunningham, Mitchell H. ; Grochowski, Christopher M. ; Baptista, Julia ; Tysoe, Carolyn ; Baple, Emma ; Lahiri, Nayana ; Homfray, Tessa ; Scurr, Ingrid ; Armstrong, Catherine ; Dean, John ; Fernandez Pelayo, Uxoa ; Jones, Aleck W.E. ; Taylor, Robert W. ; Misra, Vinod K. ; Yoon, Wan Hee ; Wright, Caroline F. ; Lupski, James R. ; Spinazzola, Antonella ; Harel, Tamar ; Holt, Ian J. ; Ellard, SianAmerican journal of human genetics, 2020-02, Vol.106 (2), p.272-279 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance EstimatesTuke, Marcus ; Tyrrell, Jessica ; Ruth, Katherine S. ; Beaumont, Robin N. ; Wood, Andrew R. ; Murray, Anna ; Frayling, Timothy M. ; Weedon, Michael N. ; Wright, Caroline F.American journal of human genetics, 2020-08, Vol.107 (2), p.325-329 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Identification of a Locus on Chromosome 1q44 for Familial Cold UrticariaHoffman, Hal M. ; Wright, Fred A. ; Broide, David H. ; Wanderer, Alan A. ; Kolodner, Richard D.American journal of human genetics, 2000-05, Vol.66 (5), p.1693-1698 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisGueneau, Lucie ; Fish, Richard J. ; Shamseldin, Hanan E. ; Voisin, Norine ; Tran Mau-Them, Frédéric ; Preiksaitiene, Egle ; Monroe, Glen R. ; Lai, Angeline ; Putoux, Audrey ; Allias, Fabienne ; Ambusaidi, Qamariya ; Ambrozaityte, Laima ; Cimbalistienė, Loreta ; Delafontaine, Julien ; Guex, Nicolas ; Hashem, Mais ; Kurdi, Wesam ; Jamuar, Saumya Shekhar ; Ying, Lim J. ; Bonnard, Carine ; Pippucci, Tommaso ; Pradervand, Sylvain ; Roechert, Bernd ; van Hasselt, Peter M. ; Wiederkehr, Michaël ; Wright, Caroline F. ; Xenarios, Ioannis ; van Haaften, Gijs ; Shaw-Smith, Charles ; Schindewolf, Erica M. ; Neerman-Arbez, Marguerite ; Sanlaville, Damien ; Lesca, Gaëtan ; Guibaud, Laurent ; Reversade, Bruno ; Chelly, Jamel ; Kučinskas, Vaidutis ; Alkuraya, Fowzan S. ; Reymond, AlexandreAmerican journal of human genetics, 2018-01, Vol.102 (1), p.116-132 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Increased Level of Linkage Disequilibrium in Rural Compared with Urban Communities: A Factor to Consider in Association-Study DesignVitart, Veronique ; Carothers, Andrew D. ; Hayward, Caroline ; Teague, Peter ; Hastie, Nicholas D. ; Campbell, Harry ; Wright, Alan F.American journal of human genetics, 2005-05, Vol.76 (5), p.763-772 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataAitken, Stuart ; McRae, Jeremy ; Kini, Usha ; Parker, Michael J. ; Joss, Shelagh ; Scott, Richard H. ; Hurles, Matthew E. ; FitzPatrick, David R. ; Morley, K.I. ; Al-Turki, S. ; Ambridge, K. ; Barrett, D.M. ; Bayzetinova, T. ; Krishnappa, N. ; Mason, L.E. ; Middleton, A. ; Prigmore, E. ; Tivey, A.R. ; Akawi, N. ; Andrews, R. ; Armstrong, R. ; Balasubramanian, M. ; Banerjee, R. ; Baty, D. ; Bernhard, B. ; Blair, E. ; Bourn, D. ; Brady, A. ; Brewer, C. ; Burn, J. ; Connell, F. ; Cooper, N. ; Cross, G. ; Dixit, A. ; Ellis, P. ; Fendick, T. ; Fisher, R. ; Greenhalgh, L. ; Hawkins, R. ; Hobson, E. ; Holden, S. ; Holder, S. ; Hurst, J. ; Ingram, S. ; Jarvis, J. ; Johnson, D. ; Joss, S. ; Kaemba, B. ; Kirby, G. ; Kraus, A. ; Kumar, D. ; Lim, D. ; Lowther, G. ; Marks, K. ; Maye, U. ; McConnell, V. ; McGowan, R. ; McMullan, D.J. ; Metcalfe, K. ; Mohammed, S. ; Nevitt, L. ; Newbury-Ecob, R. ; Ogilvie, C. ; Paterson, J. ; Payne, S. ; Porteous, D. ; Raymond, L. ; Roberts, E. ; Roberts, G. ; Roberts, P. ; Ross, A. ; Saggar, A. ; Sandford, R. ; Schweiger, S. ; Scott, C. ; Selby, A. ; Seller, A. ; Shears, D. ; Singzon, R. ; Smith, B. ; Sneddon, L. ; Stewart, F. ; Stewart, H. ; Suri, M. ; Swaminathan, G.J. ; Sweeney, E. ; Tolmie, J. ; Turner, C. ; Tysoe, C. ; Vasudevan, P. ; Vogt, J. ; Waters, J. ; Wellesley, D. ; Widaa, S. ; Wilcox, S. ; Williams, N. ; Yang, F. ; Wright, C.F. ; Barrett, J.C. ; Hurles, M.E.American journal of human genetics, 2019-11, Vol.105 (5), p.933-946 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |